Rheumatology Flashcards
RA definition
Chronic, systemic inflammatory disorder characterised by inflammatory polyarthritis
RA aetiology/risk factors
Genetics
Family history - 3 fold increase if first-degree relative affected
Demographics - middle-aged females of North American & Western European
Lower socioeconomic status
Smoking
Infections
Occupational exposures
RA pathophysiology
Trigger event
Development of self-citrullination (alteration of +ve arginine into neutral citrulline)
Immune system reacts to citrullinated proteins - development of anti-CCP antibodies
Multiple components of the innate and adaptive immune system are activated
Causes infiltration of synovial joints with immune cells and subsequent pro-inflammatory response
RA symptoms
Polyarthropathy - MCPJ, wrist joint, PIPJ, knee joint, MTPJ
Joint pain
Joint swelling
Joint stiffness - early morning stiffness lasting > 1 hour
Systemic - myalgia, fatigue, low-grade fever, weight loss and low mood
RA signs
Joint swelling
Pain on palpation of joints
Reduced range of movement
Difficulty with fine motor tasks
Muscle atrophy
RA classical signs
Boutonniere deformity - flexion at PIPJ with hyperextension of DIPJ
Swan-neck deformity - hyperextension at PIPJ with flexion of DIPJ
Ulnar deviation at MCPs - subluxation of MCPJ with deviation of the fingers towards the ulnar bone
Z-deformity at wrist - hyperextension of IPJ of thumb with carpal bone rotation and radial deviation & ulnar deviation at MCPJ
Hammer toes - compensatory flexion of the toes
RA extra-articular manifestations
Ocular - keratoconjunctivitis sicca, episcleritis, scleritis
Oral - xerostoma, oral ulcers
Pulmonary - ILD, serositis, costochondritis
Cardiac - pericarditis, myocarditis, non-infective endocarditis, increased risk of IHD
Renal - glomerulonephritis
Neurological - peripheral neuropathy, entrapment mononeuropathies, cervical myelopathy
Haemotological - neutropenia, thrombocytopaenia/thrombocytosis, haematological malignancies, anaemia of chronic disease
Dermatological - rheumatoid nodules, vasculitis skin rash, pyoderma gangrenosum
RA investigations
Bloods - FBC, U&E, bone profile, vit D, LFT, CRP, ESR, autoimmune screen
Rheumatoid factor - IgM autoantibody that reacts against Fc portion of IgG (seen in 60-70% of RA patients)
Anti-CCP - 80% of patients with RA
X-rays - hands and feet
-Soft tissue swelling
-Periarticular osteopaenia
-Joint space narrowing
-Boney erosions
Ultrasound
MRI
RA diagnostic criteria
Referred to a rheumatologist for further assessment
ACR/EULAR is a score-based system that looks at 4 domains:
-Joint involvement
-Serology tests (seropositive/seronegative)
-Acute phase reactants (markers of inflammation)
-Patient reported symptoms
Score applied when at least one joint has definitive synovitis & not better explained by another disease
Definite diagnosis = patients scores 6/10 or has erosive boney changes classical of RA
RA general management
General care - access to specialist services, holistic monitoring, screening for extra-articular manifestations
Symptom control - NSAIDs, specialist OT, PT
RA pharmacological management
Initial therapy - DMARD first line (eg. methotrexate, leflunomide or sulfasalazine)
-In combination with bridging steroid therapy (2-3 months), which allows time for DMARD to take effect
-Methotrexate
-Leflunomide
-Sulfasalazine
-Hydroxychloroquine
Failure to response - combined DMARD ‘step-up’ therapy
Biologic therapy - inadequate response to DMARD & ongoing active disease
-TNF inhibitor - adalimumab, golimumab, infliximab
-Rituximab - anti-CD20 antibody
-Tocilizumab - anti-IL-6 antibody
Managing flares - acute courses of corticosteroids (eg. prednisolone)
Step-down strategy - reducing/stopping therapy in patient who have maintained remission for > 1 year without corticosteroids
RA complications
Accelerated atherosclerosis
Associated IHD
Medication side-effects (osteoporosis, higher risk of malignancy)
SLE pathophysiology
Exposure of the immune system to blebs from apoptotic cells
The blebs (feature self-antigens) are not efficiently removed and are carried to lymphoid tissue
Immune response is raised when these are taken up by antigen-presenting cells and presented to T-lymphocytes resulting in B-lymphocyte activation & autoantibody production
Failure to inactivate lymphocytes -> circulating autoantibodies & immune-mediated damage to ones own cells
SLE symptoms
Fatigue
Malaise
Weight loss
Fever
Myalgia
SLE signs
Symmetrical small joint polyarticular arthritis
Malar rash (erythematous rash that lies on the cheeks and across the bridge of the nose)
Photosensitivity & alopecia
SLE extra-articular manifestations
Kidneys - nephritis
Lungs - pleurisy, pneumonitis, pleural effusions, pulmonary fibrosis
CVS - pericarditis, myocarditis, heart block
Neuropsychiatric - seizures, ataxia and psychosis
Sjogren’s syndrome
Anaemia of chronic disease
SLE investigations
Bedside - vital signs, blood sugar, ECG
Bloods - FBC, U&Es, clotting, LFTs, ESR/CRP, CK, vitamin D3, TFTs
Immunology:
-Antinuclear antibody - positive in about 95% patients with SLE
C3/C4 - low levels seen
-Anti-dsDNA and anti-Smith antibodies - specific for SLE
-Antiphospholipid antibodies - ordered particularly for those who have past history of miscarriages or venous thromboembolism
-Anti-RO/LA and anti-RNP antibodies - poor sensitivity
-Direct coombs test - evidence of haemolytic anaemia
-Immunoglobulins
Urine - urinalysis, random protein:creatinine ratio/24-hr urine collection for protein
Imaging - CXR, MSK XR, renal USS, CT chest, CT/MRI brain, ECHO
Biopsy
Skin - immunofluorescence shows immune deposits at the dermal-epidermal boundary
Kidney - highly sensitive and specific for lupus nephritis
SLE diagnostic criteria
EULAR/ACR (2019) - positive ANA is required, then there are ten criteria (clinical and immunological) with patient said to have SLE if they score 10/more points
SLE management
Active and healthy lifestyles, regular reviews and optimisation of other medical conditions, use of SPF advised
Induction therapy - aimed at halting disease progression and inducing remission
-Prednisolone and hydroxychloroquine used with combination of others depending on severity (eg. azathioprine, mycophenolate)
Maintenance - preventing relapse, once stable remission is achieved then immunosuppressants can be stopped, with only hydroxychloroquine continuing
SLE complications
Thrombosis
Infections
CVS disease
Treatment complications
Ankylosing spondylitis
Chronic, multi-system inflammatory disorder characterised by inflammation of the sacroiliac joints & axial skeleton
Ankylosing spondylitis pathophysiology
Early sacroiliac joint involvement leading to inflammatory back pain
Followed by involvement of the spine -> initial inflammation at the junction between the vertebrae and intervertebral discs
Annulus fibrosis undergoes ossification & forms syndesmophytes
These may bridge together across multiple vertebrae leading to the classic ‘bamboo’ spine that significantly reduces spinal mobility
Ankylosing spondylitis symptoms
Back pain - worse with inactivity, improves with exercise
Neck pain
Alternating buttock pain
Morning stiffness
Fatigue
Arthritis